Krit1

Summary

Gene Symbol: Krit1
Description: KRIT1, ankyrin repeat containing
Alias: RGD1305929, krev interaction trapped protein 1
Species: rat
Products:     Krit1

Top Publications

  1. Kleaveland B, Zheng X, Liu J, Blum Y, Tung J, Zou Z, et al. Regulation of cardiovascular development and integrity by the heart of glass-cerebral cavernous malformation protein pathway. Nat Med. 2009;15:169-76 pubmed publisher
    ..malformations (CCMs) are human vascular malformations caused by mutations in three genes of unknown function: KRIT1, CCM2 and PDCD10...
  2. Goitre L, Balzac F, Degani S, Degan P, Marchi S, Pinton P, et al. KRIT1 regulates the homeostasis of intracellular reactive oxygen species. PLoS ONE. 2010;5:e11786 pubmed publisher
    b>KRIT1 is a gene responsible for Cerebral Cavernous Malformations (CCM), a major cerebrovascular disease characterized by abnormally enlarged and leaky capillaries that predispose to seizures, focal neurological deficits, and fatal ..
  3. Marini V, Ferrera L, Dorcaratto A, Viale G, Origone P, Mareni C, et al. Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test. J Neurol Sci. 2003;212:75-8 pubmed
    ..Three CCM loci have been mapped, but the gene for only one locus--KRIT1 coding for Krev-1/rap1 interaction trapped 1 (KRIT1) protein, which is responsible for more than 40% of familial ..
  4. Lucas M, Costa A, García Moreno J, Solano F, Gamero M, Izquierdo G. Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene. BMC Neurol. 2003;3:5 pubmed
    ..Genetic analysis comprised SCCP, sequencing and restriction polymorphism of the Krit1 gene in the proband and at risk relatives...
  5. Denier C, Labauge P, Brunereau L, Cavé Riant F, Marchelli F, Arnoult M, et al. Clinical features of cerebral cavernous malformations patients with KRIT1 mutations. Ann Neurol. 2004;55:213-20 pubmed
    ..Stereotyped truncating mutations of KRIT1, the sole CCM gene identified so far, have been identified in CCM1 linked families but the clinical features ..
  6. Verlaan D, Laurent S, Sure U, Bertalanffy H, Andermann E, Andermann F, et al. CCM1 mutation screen of sporadic cases with cerebral cavernous malformations. Neurology. 2004;62:1213-5 pubmed
    ..Sporadic cases with multiple malformations warrant the same approach as individuals who have a familial history of CCM. ..
  7. Guclu B, Ozturk A, Pricola K, Seker A, Ozek M, Gunel M. Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations. Stroke. 2005;36:2479-80 pubmed
    ..We have performed mutational analysis in all 3 CCM genes, KRIT1, Malcavernin, and PDCD10, to identify the causative gene in the family...
  8. Béraud Dufour S, Gautier R, Albiges Rizo C, Chardin P, Faurobert E. Krit 1 interactions with microtubules and membranes are regulated by Rap1 and integrin cytoplasmic domain associated protein-1. FEBS J. 2007;274:5518-32 pubmed
    ..Krev interaction trapped 1 (Krit1), a protein with FERM (band four-point-one/ezrin/radixin/moesin) domain, was identified as a Rap1 partner in a ..
  9. Wüstehube J, Bartol A, Liebler S, Brütsch R, Zhu Y, Felbor U, et al. Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling. Proc Natl Acad Sci U S A. 2010;107:12640-5 pubmed publisher
    ..CCM1 (also known as KRIT1) stabilizes endothelial junctions and is essential for vascular morphogenesis in mouse embryos...

More Information

Publications14

  1. Guazzi P, Goitre L, Ferro E, Cutano V, Martino C, Trabalzini L, et al. Identification of the Kelch family protein Nd1-L as a novel molecular interactor of KRIT1. PLoS ONE. 2012;7:e44705 pubmed publisher
    Loss-of-function mutations of the KRIT1 gene (CCM1) have been associated with the Cerebral Cavernous Malformation (CCM) disease, which is characterized by serious alterations of brain capillary architecture...
  2. Calderwood D, Campbell I, Critchley D. Talins and kindlins: partners in integrin-mediated adhesion. Nat Rev Mol Cell Biol. 2013;14:503-17 pubmed publisher
    ..How kindlins act is less well-defined, but disease-causing mutations show that kindlins are also essential for integrin activation, adhesion, cell spreading and signalling. ..
  3. Labauge P, Krivosic V, Denier C, Tournier Lasserve E, Gaudric A. Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study. Arch Ophthalmol. 2006;124:885-6 pubmed
    ..To define the frequency of retinal lesions in a large panel of patients with familial cerebral cavernomas and to screen the cerebral cavernous malformation genes in patients with cerebral and retinal lesions...
  4. Lampugnani M, Orsenigo F, Rudini N, Maddaluno L, Boulday G, Chapon F, et al. CCM1 regulates vascular-lumen organization by inducing endothelial polarity. J Cell Sci. 2010;123:1073-80 pubmed publisher
    ..We propose that VEC, CCM1 and Rap1 form a signaling complex. In the absence of any of these proteins, AJs are dismantled, cell polarity is lost and vascular lumenal structure is severely altered. ..
  5. Bouvard D, Pouwels J, De Franceschi N, Ivaska J. Integrin inactivators: balancing cellular functions in vitro and in vivo. Nat Rev Mol Cell Biol. 2013;14:430-42 pubmed publisher